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181 related items for PubMed ID: 38591167

  • 1. Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).
    Chen X, Zou C.
    Mol Genet Genomic Med; 2024 Apr; 12(4):e2433. PubMed ID: 38591167
    [Abstract] [Full Text] [Related]

  • 2. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.
    Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S.
    J Bone Miner Res; 2014 Apr; 29(4):992-8. PubMed ID: 23996431
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  • 5. Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.
    Ohmachi Y, Urai S, Bando H, Yokoi J, Yamamoto M, Kanie K, Motomura Y, Tsujimoto Y, Sasaki Y, Oi Y, Yamamoto N, Suzuki M, Shichi H, Iguchi G, Uehara N, Fukuoka H, Ogawa W.
    Front Endocrinol (Lausanne); 2022 Apr; 13():1073173. PubMed ID: 36686468
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  • 7. Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.
    Tonelli L, Sanchini M, Margutti A, Buldrini B, Superti-Furga A, Ferlini A, Selvatici R, Bigoni S.
    Eur J Med Genet; 2024 Jun; 69():104943. PubMed ID: 38679371
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  • 8. Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis.
    Turner AE, Abu-Ghname A, Davis MJ, Shih L, Volk AS, Streff H, Buchanan EP.
    J Craniofac Surg; 2020 Jun; 31(5):e471-e475. PubMed ID: 32310878
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  • 9. Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.
    Cheng SSW, Chan PKJ, Luk HM, Mok MT, Lo IFM.
    Am J Med Genet A; 2021 Feb; 185(2):636-646. PubMed ID: 33263187
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  • 10. Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.
    Müller R, Steffensen T, Krstić N, Cain MA.
    Am J Med Genet A; 2021 Jun; 185(6):1903-1907. PubMed ID: 33750016
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  • 11. Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report.
    Yuan N, Lu L, Xing XP, Wang O, Jiang Y, Wu J, He MH, Wang XJ, Cao LW.
    World J Clin Cases; 2023 Apr 06; 11(10):2290-2300. PubMed ID: 37122511
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  • 12.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Cheng S, Lo IFM, Luk HM.
    ; 1993 Apr 06. PubMed ID: 37023242
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  • 13. FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
    Unger S, Górna MW, Le Béchec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafé L, Superti-Furga G, Stevenson B, Superti-Furga A.
    Am J Hum Genet; 2013 Jun 06; 92(6):990-5. PubMed ID: 23684011
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  • 14. Oral manifestations of patients with Kenny-Caffey Syndrome.
    Moussaid Y, Griffiths D, Richard B, Dieux A, Lemerrer M, Léger J, Lacombe D, Bailleul-Forestier I.
    Eur J Med Genet; 2012 Jun 06; 55(8-9):441-5. PubMed ID: 22522175
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  • 15. Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2.
    Eren E, Tezcan Ünlü H, Ceylaner S, Tarım Ö.
    J Clin Res Pediatr Endocrinol; 2023 Feb 27; 15(1):97-102. PubMed ID: 34382758
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  • 17. Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2.
    Deconte D, Kreusch TC, Salvaro BP, Perin WF, Ferreira MAT, Kopacek C, da Rosa EB, Heringer JI, Ligabue-Braun R, Zen PRG, Rosa RFM, Fiegenbaum M.
    J Pediatr Genet; 2020 Dec 27; 9(4):263-269. PubMed ID: 32765931
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  • 18. FAM111A induces nuclear dysfunction in disease and viral restriction.
    Nie M, Oravcová M, Jami-Alahmadi Y, Wohlschlegel JA, Lazzerini-Denchi E, Boddy MN.
    EMBO Rep; 2021 Feb 03; 22(2):e50803. PubMed ID: 33369867
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  • 19. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.
    Franceschini P, Testa A, Bogetti G, Girardo E, Guala A, Lopez-Bell G, Buzio G, Ferrario E, Piccato E.
    Am J Med Genet; 1992 Jan 01; 42(1):112-6. PubMed ID: 1308349
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  • 20. Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.
    Abraham MB, Li D, Tang D, O'Connell SM, McKenzie F, Lim EM, Hakonarson H, Levine MA, Choong CS.
    Int J Pediatr Endocrinol; 2017 Jan 01; 2017():1. PubMed ID: 28138333
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